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CRB1 (Crumbs homolog 1) plays a role in photoreceptor morphogenesis in the retina. It may maintain cell polarization and adhesion. CRB1 is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. The first identified human homolog, CRB1, is expressed in retina and some parts of the brain, leaving room for another homolog to function in epithelial tissues. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: crumbs family member 1, photoreceptor morphogenesis associated; Crumbs homolog 1; Protein crumbs homolog 1
基因别名: CRB1; LCA8; RP12
UniProt ID: (Human) P82279
Entrez Gene ID: (Human) 23418